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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/244400
http://purl.bioontology.org/ontology/OMIM/244400
Preferred Name

CILIARY DYSKINESIA, PRIMARY, 1
Synonyms
SIEWERT SYNDROME
ICS
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS
CILD1
IMMOTILE CILIA SYNDROME
KARTAGENER SYNDROME
PCD
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
POLYNESIAN BRONCHIECTASIS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SIEWERT SYNDROME
ICS
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS
CILD1
IMMOTILE CILIA SYNDROME
KARTAGENER SYNDROME
PCD
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
POLYNESIAN BRONCHIECTASIS
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prefLabel
CILIARY DYSKINESIA, PRIMARY, 1
Gene Symbol
PCD
DNAI1
ICS
CILD1
notation
244400
Scope Statement
Approximately 50% of patients have situs inversus [MISCELLANEOUS]
Caused by mutation in the dynein, axonemal, intermediate chain 1 gene (DNAI1, 604366.0001). [MOLECULAR BASIS]
Genetic heterogeneity [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
242650
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001812
http://purl.bioontology.org/ontology/OMIM/MTHU037105
http://purl.bioontology.org/ontology/OMIM/MTHU006969
http://purl.bioontology.org/ontology/OMIM/MTHU012034
http://purl.bioontology.org/ontology/OMIM/MTHU012041
http://purl.bioontology.org/ontology/OMIM/MTHU012042
http://purl.bioontology.org/ontology/OMIM/MTHU012035
http://purl.bioontology.org/ontology/OMIM/MTHU012040
http://purl.bioontology.org/ontology/OMIM/MTHU001474
http://purl.bioontology.org/ontology/OMIM/MTHU002638
http://purl.bioontology.org/ontology/OMIM/MTHU037622
http://purl.bioontology.org/ontology/OMIM/MTHU037624
http://purl.bioontology.org/ontology/OMIM/MTHU004672
http://purl.bioontology.org/ontology/OMIM/MTHU036635
http://purl.bioontology.org/ontology/OMIM/MTHU011729
http://purl.bioontology.org/ontology/OMIM/MTHU037623
http://purl.bioontology.org/ontology/OMIM/MTHU036923
http://purl.bioontology.org/ontology/OMIM/MTHU012038
http://purl.bioontology.org/ontology/OMIM/MTHU037263
http://purl.bioontology.org/ontology/OMIM/MTHU012037
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
9p13.3
tui
T047
cui
C0022521
C4551906
C4317124
C4551720
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